Resumo

SIBELLO DEUSTUA, Sirley et al. Goltz's syndrome. Rev Cubana Oftalmol [online]. 2016, vol.29, n.4, pp.735-740. ISSN 0864-2176.

Goltz syndrome or focal dermal hypoplasia is a rare multisystemic disorder involving the skin, the musculoskeletal system, the eyes, the hair, the nails and the kidney among others, with considerable variation in clinical features. The ophthalmological examination of the case presented in this paper shows a girl who has microphthalmia in the left eye, nasolacrimal duct obstruction in the right eye and coloboma of the iris and optic nerve in the microphthalmic eye in addition to sensory esotropia. The diagnosis was confirmed by genetic studies and it was focal dermal hypoplasia, which is a rare disease but we should learn about it to be able to identify it if some patient with the disease goes to our service.

Palavras-chave : focal dermal hipoplasia; adactylia; syndactyly; anophtalmo; microphtalmo.

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